3. INTRODUCTION
• The thalassemia is a blood disorder passed
down through families (inherited) in which the
body makes an abnormal form of Hb
• Hemoglobin (Hb) is the protein in RBC’s that
carries oxygen.
• The disorder results in large no. of RBC’s being
destroyed, which leads to anemia.
4.
5. DEFINITION
• Thalassemia is an autosomal -recessive
genetic disorder that results in adequate
normal Hb production. Whereas IDA affects
heme synthesis of globin.
• Thalassemia is a group of diseases that have
an autosomal recessive genetic basis
involving inadequate production of normal
Hb.
6.
7.
8. INCIDENCE
• Commonly found in members of ethnic groups
whose origins are near the Mediterranean Sea
and equatorial or near - equatorial regions of
Asia; the Middle East, and Africa.
• Commonest group of autosomal recessive
disorders in India.
• Carrier frequencies vary from 3% to 17% in
different populations, with over 30 million people
carrying the defective gene.
• About more than 9000 thalassemic children are
born every year in country.
9.
10. CAUSES
• Hb is made up of two proteins:
– Alpha globin,
– Beta globin.
Thalassemia occurs when there is a defect in a
gene that helps in control production of one
of these proteins. (abnormal Hb synthesis).
11. • Risk factors for thalassemia include:
– Family history of the disorder.
– Asian, Chinese, Mediterranean, or African-
American ethnicity.
12. TYPES
A. Two types of thalassemia:
1) Alpha thalassemia:- (most common)
• When a gene or genes related to alpha globin
protein are missing or changed (mutated).
• Alpha globin chains are absent / reduced in
this type of thalassemia.
13. • Alpha trait (heterozygous state) is
asymptomatic in about 30% of African
Americans.
• Alpha thalassemia occur most often in people
from Southeast Asia, Middle East , China, And
those of African descent.
14. 2) Beta thalassemia:-
• When ‘similar gene defects’ affect the
production of beta globin protein.
• Beta globin chains are absent or reduced in
this type of thalassemia.
• It mostly occur often in people of
Mediterranean origin.
• Chinese , Asians, and Africans are less
affected.
15.
16.
17. B. Both alpha & beta have different subtypes
including:
1) Thalassemia major:-
• It is developed by inherited gene defect from
both parents.
• A homozygous person has two thalassemic
genes, causing a severe condition known as
thalassemia major.
18. • Those who inherit both beta- genes
(homozygote) have thalassemia major, which
results in a profound and life threatening
anemia.
• Beta thalassemia major is also called Cooley
anemia
19.
20. 2. Thalassemia minor:-
• It includes the receiving of faulty gene from
the only one parent.
• Those who inherit just one beta gene
(heterozygote) have thalassemia minor also
called the thalassemia trait, the carrier state
of thalassemia.
21. • A person who is heterozygous has one
thalassemic gene and one normal gene and is
said to have thalassemia minor (or
thalassemic trait), which is a mild form of
disease.
24. PATHOPHYSIOLOGY
Mutation in alpha-
globin gene
Defected gene
inheritance
One beta -globin gene
is mutated
Existence of a
mutation in both
beta-genes
Minor disruption in
beta -globin synthesis
Significant
impairment of beta
globin synthesis
Marked reduction in
Hb production
Alpha-thalassemia Thalassemia major Thalassemia minor Profound anemia
(Beta –thalassemia)
Hemolysis results from an alpha & beta globin chains, which are normally paired
The excess unpaired alpha or beta globin chains aggregate
Form a precipitate, that damages RBC membranes
Intravascular hemolysis
25. CLINICAL MANIFESTATIONS
• Individual with alpha-thalassemia may have
mild anemia & are typically asymptomatic.
(most severe form of alpha thalassemia major
causes stillbirth).
• Children born with beta-thalassemia major
(Cooley anemia) are normal at birth, but
develop severe anemia during first year of life.
26. • Individual with thalassemia major are
diagnosed early in life because the lack of Hb
becomes quickly apparent.
• Affected children appear normal at birth
because fetal Hb contain no beta-globin; in
first few months, manifestations of severe
anemia begin to appear.
27. • Children also have pain, failure to thrive,
frequent infections, diarrhoea, spleenomegaly,
hepatomegaly, jaundice from RBC hemolysis,
and bone marrow hyperplasia.
• Other symptoms are:
– Bone deformities in face.
– Fatigue.
– Growth failure.
– Shortness of breath.
– Yellow skin (jaundice).
28.
29. DIAGNOSTIC EVALUATION
• History collection.
• Physical examination (can reveal spleenomegaly).
• Blood test including the findings:
– RBC’s will appear small & abnormal in shape when
looked under microscope.
– CBC reveals anemia.
– A test called Hb electrophoresis shows the presence
of an abnormal form of Hb.
– A test called mutational analysis can help detect alpha
thalassemia.
30. • Amniocentesis (fetal diagnosis for a specific
type of thalassemia).
• Molecular diagnostic tests can determine
whether a mutation is present after 8 weeks
of gestation.
31. MANAGEMENT
MEDICAL MANAGEMENT:
• Thalassemia minor usually does not require
treatment.
• For thalassemia major, the treatment goals are:
– to provide adequate normal Hb for erythropoiesis and
– to alleviate the effects of iron overload
– Or its treatment goal involves regular blood
transfusion & folate supplements).
32. • During blood transfusion, the client should not
take iron supplements (doing so can cause a
high amount of iron to build up in body, which
can be harmful).
• Chronic transfusions are administered to
correct anemia with the targeted Hb level at
9-10 mg/dl .
33. • Iron chelation (chelation therapy) with
deferoxamine is necessary to prevent iron
overload, by removing excess iron from body.
• Genetic counseling and testing for families
should be encouraged.
34. SURGICAL MANAGEMENT:
• Bone marrow transplantation (especially in
children).
• Spleenectomy may be done to decrease
transfusion requirements (because RBC’s may
be sequestered in spleen , if iron supplements
used during blood transfusion)
36. • Nursing diagnosis:
1. Risk for infection related to decreased resistance
secondary to hypoxia.
2. Impaired nutritional pattern less than body
requirement related to inadequate nutritional
intake and anorexia.
3. Activity intolerance related to impaired oxygen
transport.
4. Disturbed body image related to skeletal
changes.
37. • Intervention:
– Assess the client’s general conditions.
– Monitor vital signs.
– Monitor intake output.
– Manage fluid overload.
– Monitor regular blood transfusion to keep Hb at 10.5
gm/dl.
– 24 hours urine collection after chelating therapy to
estimate amount of iron excreted.
– Reassure the orange color of urine is normal (can
show dehydration).
39. REFRENCES
• Chintamani lewis, et al. A Textbook of Medical Surgical
Nursing Assessment and Managemet of Clinical
procedures, New Delhi, Elsevier 2011, Page no.-695.
• Joyce MB et al. A Textbook of Medical Surgical Nursing
Management for the Positive outcomes , 8th Edition,
2nd Volume, Philadelphia :Saunders Elsevier;2009, Page
no.- 2018-19.
• https://www.medlineplus.gov/ency/article/000587.ht
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